Canonical Allele Identifier: CA282186653

Gene: CDH5

Linked Data

• dbSNP Id: rs1555513660

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.66398521del , CM000678.2:g.66398521del	GRCh38
NC_000016.9:g.66432424del , CM000678.1:g.66432424del	GRCh37
NC_000016.8:g.64989925del	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000341529.8:c.1551del MANE Select	ENSP00000344115.3:p.Leu518Ter
ENST00000649567.1:c.1551del	ENSP00000497290.1:p.Leu518Ter
ENST00000341529.7:c.1551del	ENSP00000344115.3:p.Leu518Ter
ENST00000539168.1:c.-133del	ENSP00000461880.1:n.-133del
ENST00000565334.5:c.*674del	ENSP00000456028.1:n.*674del
ENST00000614547.4:c.1206del	ENSP00000479381.1:p.Leu403Ter
NM_001795.3:c.1551del	NP_001786.2:p.Leu518Ter
XM_011522801.1:c.1578del	XP_011521103.1:p.Leu527Ter
NM_001795.4:c.1551del	NP_001786.2:p.Leu518Ter
XM_011522801.2:c.1578del	XP_011521103.1:p.Leu527Ter
XM_024450133.1:c.1578del	XP_024305901.1:p.Leu527Ter
NM_001795.5:c.1551del MANE Select	NP_001786.2:p.Leu518Ter